Incidental Mutation 'R7046:Chsy3'
ID |
547348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
MMRRC Submission |
045144-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7046 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59542875 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 671
(K671R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080721
AA Change: K671R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: K671R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
low complexity region
|
60 |
78 |
N/A |
INTRINSIC |
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
Pfam:Fringe
|
169 |
410 |
9.4e-19 |
PFAM |
Pfam:CHGN
|
330 |
866 |
1.4e-194 |
PFAM |
Pfam:Glyco_tranf_2_2
|
652 |
841 |
1.8e-7 |
PFAM |
Pfam:Glyco_transf_7C
|
769 |
839 |
3.2e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.0895 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (63/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,772,364 (GRCm39) |
Y805C |
probably damaging |
Het |
Aoc1l3 |
T |
A |
6: 48,964,512 (GRCm39) |
D173E |
probably benign |
Het |
Cabp7 |
T |
A |
11: 4,688,886 (GRCm39) |
I195F |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,835,201 (GRCm39) |
N317S |
probably damaging |
Het |
Ccdc127 |
T |
G |
13: 74,500,994 (GRCm39) |
L4V |
probably damaging |
Het |
Ccdc7a |
T |
C |
8: 129,774,100 (GRCm39) |
E145G |
probably damaging |
Het |
Cdh10 |
T |
A |
15: 19,013,287 (GRCm39) |
V629D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,214,530 (GRCm39) |
L1497R |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,621,367 (GRCm39) |
Y569C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,786,696 (GRCm39) |
|
probably benign |
Het |
Cyp51 |
T |
A |
5: 4,150,188 (GRCm39) |
E178D |
probably damaging |
Het |
Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,450,568 (GRCm39) |
C727F |
probably benign |
Het |
Egf |
A |
T |
3: 129,548,607 (GRCm39) |
W3R |
unknown |
Het |
Egfem1 |
G |
A |
3: 29,136,364 (GRCm39) |
|
probably null |
Het |
Epb41l1 |
G |
T |
2: 156,368,812 (GRCm39) |
V682L |
possibly damaging |
Het |
Etv1 |
A |
G |
12: 38,834,369 (GRCm39) |
|
probably null |
Het |
Faap100 |
A |
G |
11: 120,268,200 (GRCm39) |
F191S |
possibly damaging |
Het |
Fmo1 |
T |
A |
1: 162,667,263 (GRCm39) |
D184V |
possibly damaging |
Het |
Ghrl |
A |
G |
6: 113,696,344 (GRCm39) |
L16P |
probably damaging |
Het |
Gria4 |
T |
A |
9: 4,420,278 (GRCm39) |
L861F |
probably damaging |
Het |
Gsr |
T |
A |
8: 34,185,090 (GRCm39) |
M428K |
probably damaging |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Kbtbd12 |
A |
G |
6: 88,595,497 (GRCm39) |
M111T |
possibly damaging |
Het |
Krtap21-1 |
G |
T |
16: 89,200,623 (GRCm39) |
Y6* |
probably null |
Het |
Lin9 |
A |
G |
1: 180,494,935 (GRCm39) |
D219G |
probably damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,739 (GRCm39) |
M1V |
probably null |
Het |
Macc1 |
T |
G |
12: 119,410,773 (GRCm39) |
F514V |
probably benign |
Het |
Madcam1 |
C |
T |
10: 79,504,139 (GRCm39) |
R242C |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,131,944 (GRCm39) |
S1037P |
probably benign |
Het |
Micall2 |
C |
T |
5: 139,694,699 (GRCm39) |
|
probably benign |
Het |
Mtr |
C |
A |
13: 12,205,095 (GRCm39) |
A1122S |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,226,456 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
A |
16: 48,929,662 (GRCm39) |
C529* |
probably null |
Het |
Napsa |
T |
C |
7: 44,234,509 (GRCm39) |
V247A |
probably damaging |
Het |
Nr2c2 |
A |
G |
6: 92,135,338 (GRCm39) |
T309A |
probably damaging |
Het |
Or1e26 |
A |
T |
11: 73,480,558 (GRCm39) |
I2K |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,887,173 (GRCm39) |
V117E |
probably benign |
Het |
Or2n1b |
A |
T |
17: 38,459,691 (GRCm39) |
M71L |
probably benign |
Het |
Osgepl1 |
A |
T |
1: 53,360,710 (GRCm39) |
I384F |
possibly damaging |
Het |
Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
Pds5b |
A |
G |
5: 150,673,385 (GRCm39) |
Y481C |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,668,303 (GRCm39) |
Y818* |
probably null |
Het |
Pin1rt1 |
T |
C |
2: 104,544,767 (GRCm39) |
S122G |
probably benign |
Het |
Pkdcc |
A |
T |
17: 83,531,687 (GRCm39) |
Y487F |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,493,440 (GRCm39) |
C392Y |
probably damaging |
Het |
Psd4 |
T |
G |
2: 24,284,985 (GRCm39) |
M283R |
probably benign |
Het |
Ralgds |
G |
T |
2: 28,430,741 (GRCm39) |
G68W |
probably damaging |
Het |
Rmdn2 |
T |
A |
17: 79,928,808 (GRCm39) |
I20N |
probably damaging |
Het |
Sestd1 |
A |
G |
2: 77,022,910 (GRCm39) |
V486A |
probably benign |
Het |
Skic8 |
T |
A |
9: 54,626,539 (GRCm39) |
D275V |
probably damaging |
Het |
Spmap2 |
G |
T |
10: 79,422,796 (GRCm39) |
D35E |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,533,748 (GRCm39) |
H958R |
possibly damaging |
Het |
Taok3 |
C |
T |
5: 117,411,771 (GRCm39) |
R857C |
probably damaging |
Het |
Tasor |
A |
T |
14: 27,194,392 (GRCm39) |
L1197F |
probably damaging |
Het |
Trio |
T |
C |
15: 27,832,137 (GRCm39) |
E1245G |
probably damaging |
Het |
Usp19 |
C |
T |
9: 108,374,334 (GRCm39) |
H763Y |
possibly damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,310,651 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn1r45 |
T |
G |
6: 89,910,538 (GRCm39) |
Y144S |
probably benign |
Het |
Vwa3b |
G |
A |
1: 37,212,959 (GRCm39) |
E152K |
probably benign |
Het |
Xrcc5 |
G |
A |
1: 72,433,875 (GRCm39) |
M731I |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,787 (GRCm39) |
S939N |
possibly damaging |
Het |
Zfp874a |
C |
A |
13: 67,590,418 (GRCm39) |
C422F |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,808,719 (GRCm39) |
D637G |
possibly damaging |
Het |
|
Other mutations in Chsy3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01472:Chsy3
|
APN |
18 |
59,309,439 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01543:Chsy3
|
APN |
18 |
59,543,472 (GRCm39) |
nonsense |
probably null |
|
IGL01627:Chsy3
|
APN |
18 |
59,309,367 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Chsy3
|
APN |
18 |
59,542,383 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02604:Chsy3
|
APN |
18 |
59,542,187 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02888:Chsy3
|
APN |
18 |
59,543,067 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03199:Chsy3
|
APN |
18 |
59,309,473 (GRCm39) |
missense |
probably damaging |
1.00 |
bajo
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
bajo2
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
inferior
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
P0045:Chsy3
|
UTSW |
18 |
59,542,078 (GRCm39) |
nonsense |
probably null |
|
R0456:Chsy3
|
UTSW |
18 |
59,309,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0605:Chsy3
|
UTSW |
18 |
59,542,125 (GRCm39) |
missense |
probably damaging |
0.97 |
R1068:Chsy3
|
UTSW |
18 |
59,543,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Chsy3
|
UTSW |
18 |
59,541,985 (GRCm39) |
missense |
probably benign |
0.09 |
R1654:Chsy3
|
UTSW |
18 |
59,309,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1868:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
R1938:Chsy3
|
UTSW |
18 |
59,542,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R2114:Chsy3
|
UTSW |
18 |
59,312,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Chsy3
|
UTSW |
18 |
59,309,544 (GRCm39) |
missense |
probably benign |
0.04 |
R3693:Chsy3
|
UTSW |
18 |
59,309,080 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3787:Chsy3
|
UTSW |
18 |
59,542,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R3811:Chsy3
|
UTSW |
18 |
59,309,242 (GRCm39) |
missense |
probably benign |
0.42 |
R3878:Chsy3
|
UTSW |
18 |
59,542,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4385:Chsy3
|
UTSW |
18 |
59,312,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4385:Chsy3
|
UTSW |
18 |
59,309,424 (GRCm39) |
missense |
probably benign |
0.00 |
R4512:Chsy3
|
UTSW |
18 |
59,543,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Chsy3
|
UTSW |
18 |
59,312,485 (GRCm39) |
missense |
probably benign |
0.07 |
R4751:Chsy3
|
UTSW |
18 |
59,308,872 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4982:Chsy3
|
UTSW |
18 |
59,542,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4982:Chsy3
|
UTSW |
18 |
59,542,647 (GRCm39) |
missense |
probably benign |
0.07 |
R5032:Chsy3
|
UTSW |
18 |
59,312,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Chsy3
|
UTSW |
18 |
59,312,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R5220:Chsy3
|
UTSW |
18 |
59,543,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R5257:Chsy3
|
UTSW |
18 |
59,542,866 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5259:Chsy3
|
UTSW |
18 |
59,543,318 (GRCm39) |
missense |
probably damaging |
0.96 |
R5558:Chsy3
|
UTSW |
18 |
59,309,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Chsy3
|
UTSW |
18 |
59,309,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R5990:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R5992:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6064:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6065:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
R6182:Chsy3
|
UTSW |
18 |
59,312,414 (GRCm39) |
missense |
probably benign |
0.00 |
R6881:Chsy3
|
UTSW |
18 |
59,312,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R6985:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
R7078:Chsy3
|
UTSW |
18 |
59,309,149 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7105:Chsy3
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7129:Chsy3
|
UTSW |
18 |
59,543,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Chsy3
|
UTSW |
18 |
59,542,357 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7224:Chsy3
|
UTSW |
18 |
59,542,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Chsy3
|
UTSW |
18 |
59,542,299 (GRCm39) |
missense |
probably benign |
0.10 |
R7936:Chsy3
|
UTSW |
18 |
59,542,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Chsy3
|
UTSW |
18 |
59,543,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Chsy3
|
UTSW |
18 |
59,312,519 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8215:Chsy3
|
UTSW |
18 |
59,308,941 (GRCm39) |
nonsense |
probably null |
|
R8332:Chsy3
|
UTSW |
18 |
59,542,087 (GRCm39) |
missense |
probably damaging |
0.98 |
R8375:Chsy3
|
UTSW |
18 |
59,312,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Chsy3
|
UTSW |
18 |
59,543,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8700:Chsy3
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R9040:Chsy3
|
UTSW |
18 |
59,542,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R9290:Chsy3
|
UTSW |
18 |
59,542,928 (GRCm39) |
missense |
probably benign |
0.00 |
R9413:Chsy3
|
UTSW |
18 |
59,309,170 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9490:Chsy3
|
UTSW |
18 |
59,312,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGGTACACAGTCATTCTCC -3'
(R):5'- ACAGCGTTGGAGGAAGTCTC -3'
Sequencing Primer
(F):5'- TCTTCTCTTCAAGAGGCCAAAG -3'
(R):5'- GGAAGTCTCCTCTGAAAATCAAGTC -3'
|
Posted On |
2019-05-13 |